|Institutional Source||Beutler Lab|
|Gene Name||FMS-like tyrosine kinase 3|
|Synonyms||Flt-3, CD135, Flk-2, wmfl, Flk2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3939 (G1)|
|Chromosomal Location||147330741-147400489 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 147356243 bp|
|Amino Acid Change||Tyrosine to Histidine at position 518 (Y518H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039041 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049324]|
|Predicted Effect||possibly damaging
AA Change: Y518H
PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: Y518H
|Meta Mutation Damage Score||0.014|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice functionally null for this gene display abnormal lymphopoiesis. Homozygous ENU mutant mice are sensitive to infection by mouse cytomegalovirus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Flt3||
(F):5'- ACTCAGAACTGGGCAATCTC -3'
(R):5'- GTAGAAACCCTGCCTTCCTG -3'
(F):5'- TCAGAACTGGGCAATCTCATAAG -3'
(R):5'- CAGAAAAGTGTTTGGCCAG -3'